Variant report

Variant	rs8122540
Chromosome Location	chr20:16045847-16045848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1033858	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485543	1.00[ASN][1000 genomes]
rs16997056	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17644136	1.00[ASN][1000 genomes]
rs17646021	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41309829	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57792062	1.00[ASN][1000 genomes]
rs6034367	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6043703	1.00[ASN][1000 genomes]
rs6043706	1.00[ASN][1000 genomes]
rs60854916	1.00[ASN][1000 genomes]
rs6105508	1.00[ASN][1000 genomes]
rs7271371	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092725	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092737	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095217	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73237726	1.00[ASN][1000 genomes]
rs73237730	1.00[ASN][1000 genomes]
rs8116533	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912184	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912186	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv585649	chr20:16004320-16066764	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16042000-16047000	Enhancers	Brain Germinal Matrix	brain
2	chr20:16043400-16046600	Enhancers	HSMM	muscle
3	chr20:16043400-16048000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:16043800-16047400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:16043800-16047400	Enhancers	HSMMtube	muscle
6	chr20:16043800-16047600	Enhancers	Fetal Muscle Leg	muscle
7	chr20:16044000-16047000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:16044000-16047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:16044200-16046400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr20:16044200-16047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:16044400-16047200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:16044600-16047000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr20:16044600-16047800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:16044800-16046200	Enhancers	Fetal Brain Male	brain
15	chr20:16044800-16046200	Enhancers	Fetal Brain Female	brain
16	chr20:16044800-16046200	Enhancers	Fetal Stomach	stomach
17	chr20:16044800-16046800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr20:16045000-16046400	Enhancers	Brain Anterior Caudate	brain
19	chr20:16045000-16046600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr20:16045000-16046800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr20:16045000-16046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:16045000-16047000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr20:16045000-16047000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:16045000-16047000	Enhancers	Ovary	ovary
25	chr20:16045000-16047600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:16045000-16047800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:16045200-16046200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr20:16045200-16046200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr20:16045200-16046200	Enhancers	Adipose Nuclei	Adipose
30	chr20:16045200-16046200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:16045200-16046400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:16045200-16047000	Enhancers	Left Ventricle	heart
33	chr20:16045200-16047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:16045200-16047400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr20:16045200-16047400	Enhancers	Fetal Heart	heart
36	chr20:16045200-16047800	Enhancers	HepG2	liver
37	chr20:16045400-16046200	Enhancers	Fetal Lung	lung
38	chr20:16045400-16046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr20:16045400-16046400	Weak transcription	Aorta	Aorta
40	chr20:16045400-16046600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr20:16045600-16046000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:16045600-16046200	Enhancers	Brain Hippocampus Middle	brain
43	chr20:16045600-16046400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:16045600-16046400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr20:16045600-16046800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr20:16045800-16046000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:16045800-16046000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr20:16045800-16046200	Enhancers	Primary B cells from peripheral blood	blood
49	chr20:16045800-16046400	Enhancers	Brain Cingulate Gyrus	brain
50	chr20:16045800-16046600	Enhancers	Brain Substantia Nigra	brain

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